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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 21-46137030-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=46137030&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FTCD",
"hgnc_id": 3974,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Gln528Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_006657.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.0647,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"chr": "21",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.11518159508705139,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 541,
"aa_ref": "Q",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 1639,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1583,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_206965.2",
"gene_hgnc_id": 3974,
"gene_symbol": "FTCD",
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Gln528Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397746.8",
"protein_coding": true,
"protein_id": "NP_996848.1",
"strand": false,
"transcript": "NM_206965.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 541,
"aa_ref": "Q",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 1639,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1583,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000397746.8",
"gene_hgnc_id": 3974,
"gene_symbol": "FTCD",
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Gln528Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_206965.2",
"protein_coding": true,
"protein_id": "ENSP00000380854.3",
"strand": false,
"transcript": "ENST00000397746.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 541,
"aa_ref": "Q",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1905,
"cdna_start": 1627,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1583,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000291670.9",
"gene_hgnc_id": 3974,
"gene_symbol": "FTCD",
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Gln528Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000291670.5",
"strand": false,
"transcript": "ENST00000291670.9",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 572,
"aa_ref": "P",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1955,
"cdna_start": 1607,
"cds_end": null,
"cds_length": 1719,
"cds_start": 1563,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000397748.5",
"gene_hgnc_id": 3974,
"gene_symbol": "FTCD",
"hgvs_c": "c.1563A>G",
"hgvs_p": "p.Pro521Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380856.1",
"strand": false,
"transcript": "ENST00000397748.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 495,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1834,
"cdna_start": null,
"cds_end": null,
"cds_length": 1488,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000397743.1",
"gene_hgnc_id": 3974,
"gene_symbol": "FTCD",
"hgvs_c": "c.*51A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380851.1",
"strand": false,
"transcript": "ENST00000397743.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1255,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000460011.6",
"gene_hgnc_id": 3974,
"gene_symbol": "FTCD",
"hgvs_c": "n.119A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507070.1",
"strand": false,
"transcript": "ENST00000460011.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 541,
"aa_ref": "Q",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1917,
"cdna_start": 1639,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1583,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_006657.3",
"gene_hgnc_id": 3974,
"gene_symbol": "FTCD",
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Gln528Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006648.1",
"strand": false,
"transcript": "NM_006657.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 541,
"aa_ref": "Q",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1792,
"cdna_start": 1636,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1583,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000856709.1",
"gene_hgnc_id": 3974,
"gene_symbol": "FTCD",
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Gln528Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526768.1",
"strand": false,
"transcript": "ENST00000856709.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 541,
"aa_ref": "Q",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2099,
"cdna_start": 1641,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1583,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000856710.1",
"gene_hgnc_id": 3974,
"gene_symbol": "FTCD",
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Gln528Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526769.1",
"strand": false,
"transcript": "ENST00000856710.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 501,
"aa_ref": "Q",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1767,
"cdna_start": 1519,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1463,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000856711.1",
"gene_hgnc_id": 3974,
"gene_symbol": "FTCD",
"hgvs_c": "c.1463A>G",
"hgvs_p": "p.Gln488Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526770.1",
"strand": false,
"transcript": "ENST00000856711.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 119,
"aa_ref": "Q",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1296,
"cdna_start": 916,
"cds_end": null,
"cds_length": 360,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000494498.2",
"gene_hgnc_id": 3974,
"gene_symbol": "FTCD",
"hgvs_c": "c.317A>G",
"hgvs_p": "p.Gln106Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507847.1",
"strand": false,
"transcript": "ENST00000494498.2",
"transcript_support_level": 3
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 572,
"aa_ref": "P",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1967,
"cdna_start": 1619,
"cds_end": null,
"cds_length": 1719,
"cds_start": 1563,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001320412.2",
"gene_hgnc_id": 3974,
"gene_symbol": "FTCD",
"hgvs_c": "c.1563A>G",
"hgvs_p": "p.Pro521Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307341.1",
"strand": false,
"transcript": "NM_001320412.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 132,
"aa_ref": "P",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 436,
"cdna_start": 185,
"cds_end": null,
"cds_length": 399,
"cds_start": 183,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000446405.5",
"gene_hgnc_id": 3974,
"gene_symbol": "FTCD",
"hgvs_c": "c.183A>G",
"hgvs_p": "p.Pro61Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409015.1",
"strand": false,
"transcript": "ENST00000446405.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 398,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000483568.5",
"gene_hgnc_id": 3974,
"gene_symbol": "FTCD",
"hgvs_c": "n.120A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000483568.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1936,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000498355.6",
"gene_hgnc_id": 3974,
"gene_symbol": "FTCD",
"hgvs_c": "n.1652A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000498355.6",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs727503938",
"effect": "missense_variant",
"frequency_reference_population": 0.000001859236,
"gene_hgnc_id": 3974,
"gene_symbol": "FTCD",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000136859,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000656996,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.37,
"pos": 46137030,
"ref": "T",
"revel_prediction": "Benign",
"revel_score": 0.028,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_006657.3"
}
]
}